It’s hard for Jo-anne Morris to maintain her composure when she talks about Dr. Sylvie Langlois, a clinical geneticist at BC Children’s Hospital. After all Dr. Langlois is the person Jo-anne credits for ending her 10-year search for a diagnosis for her daughter, Cayla.
Cayla has intellectual delays, problems with her growth, smaller hands and feet, and a severe nut allergy, among other medical problems. Despite undergoing a battery of tests at BC Children’s and Sunny Hill Health Centre for Children since age two, Cayla’s condition remained a mystery to doctors. The absence of a diagnosis has taken a toll on Jo-anne.
“I have shed so many tears at the hospital,” says Jo-anne. “But the doctors never gave up on us.”
In November 2012 a new technology called chromosomal microarray analysis finally enabled Dr. Langlois to detect that Cayla has a chromosome 17p13.1 micro duplication – a genetic disorder so rare that there is only one other documented case of it in the world.
Using a slide with millions of dots of DNA on it, chromosomal microarray analysis identifies very subtle changes in a patient’s DNA.
“Before this technology was available we looked at chromosomes under a microscope and a good chunk of the chromosome needed to be different in order for us to detect it,” explains Dr. Langlois, who first saw Cayla in 2007. “The variation in Cayla’s chromosome was so minute that we weren’t able to pinpoint it.”
Dr. Langlois also put Jo-anne in touch with the family who has a child with the same diagnosis in Italy. “Not only did [Dr. Langlois] share her patience, her understanding and her knowledge, she has made it possible for me to speak with the one other family that ‘gets’ what we go through,” Jo-anne says.
With help from two special education assistants Cayla attends school, and she goes to speech therapy every week. She is loving, compassionate and, according to Jo-anne, “keeps everyone laughing all the time.”
While the diagnosis of Cayla’s particular genetic change does not have any bearing on her treatment, Jo-anne sees it as the key to putting their “puzzled lives together and complete the picture.”
“There’s always that bit of loss when you don’t have a diagnosis. Now I’m getting my life back. It’s helped my family so much.”